ArticleGenome research2018
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed.
- Epigenetic Clock Analysis of Sex Chromosome Aneuploidies.Aging cell · 2025Article
- Transcription dosage compensation does not occur in Down syndrome.BMC biology · 2023Article
- Maternal selection of human embryos in early gestation: Insights from recurrent miscarriage.Seminars in cell & developmental biology · 2022Review
- Genetic variation in aneuploidy prevalence and tolerance across Saccharomyces cerevisiae lineages.Genetics · 2021Article
- Molecular design of hypothalamus development.Nature · 2020Article
- Influence of allelic differences in Down syndrome.Progress in brain research · 2020Review
- Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.American journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
The majority of aneuploid fetuses are spontaneously miscarried. Nevertheless, some aneuploid individuals survive despite the strong genetic insult. Here, we investigate if the survival probability of aneuploid fetuses is affected by the genome-wide burden of slightly deleterious variants. We analyzed two cohorts of live-born Down syndrome individuals (388 genotyped samples and 16 fibroblast transcriptomes) and observed a deficit of slightly deleterious variants on Chromosome 21 and decreased transcriptome-wide variation in the expression level of highly constrained genes. We interpret these results as signatures of embryonic selection, and propose a genetic handicap model whereby an individual bearing an extremely severe deleterious variant (such as aneuploidy) could escape embryonic lethality if the genome-wide burden of slightly deleterious variants is sufficiently low. This approach can be used to study the composition and effect of the numerous slightly deleterious variants in humans and model organisms.
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Registered trials
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